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Test Price

2,800 AED

✅ Home Collection Available

ABCA1 Gene Tangier Disease Genetic Test (NGS) – Comprehensive Molecular Analysis

Executive Summary & Core Metrics

  • 99.9% Diagnostic Sensitivity – ISO 9001:2015‑certified next‑generation sequencing covering the entire ABCA1 coding region with full clinical variant annotation.
  • VIP Mobile Phlebotomy & Temperature‑Controlled Home Collection – Hospital‑grade cold‑chain logistics available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
  • Post‑Test Genetic Counselling Session – A DHA‑licensed consultant medical geneticist provides a telephonic interpretation of your results in the context of your clinical and family history.
  • Insurance Pre‑Approval via WhatsApp – Direct billing verification and authorisation checks at +971 54 548 8731.

Test Overview & Methodology

This advanced next‑generation sequencing (NGS) test interrogates the entire coding region and splice‑site junctions of the ABCA1 gene to identify pathogenic variants responsible for Tangier disease—a rare autosomal recessive disorder characterised by severe HDL deficiency, orange tonsils, peripheral neuropathy, and markedly elevated cardiovascular risk. The analysis is performed on an Illumina platform with orthogonal confirmation of all detected variants.

Feature DNA Labs UAE ABCA1 NGS Test Closest Alternative (Targeted Genotyping)
Precision Full‑gene sequencing of all exons and flanking splice sites (±20 bp) Limited to 3–5 common point mutations
Methodology NGS (Illumina platform) with Sanger confirmation of all reportable variants Allele‑specific PCR or Sanger sequencing only
Turnaround Time 3–4 weeks (21–28 business days) 5–6 weeks
Detection Coverage >99.9% of coding sequence and deep intronic regions routinely assessed ~80% of known pathogenic variants
Sample Requirement 2 mL whole blood in EDTA 2 mL whole blood in EDTA
Price (AED) 2,800 ~3,500
UAE Accreditation DHA / MOHAP quality mark, ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) Often lacks local accreditation

Physician Insight & Safety Protocols

🩺 Note from Lina Osama Zaki Quteineh – Consultant Medical Genetics | DHA Registration ID: 9294403

Genetic testing for Tangier disease is a sensitive and often life‑changing step. The ABCA1 NGS assay delivers extremely precise data, yet a result must always be correlated with your complete clinical picture—lipid profile, family pedigree, and physical findings. I encourage you to review every finding with your treating physician and our genetic counselling team. A lab report alone never tells the full story; your health deserves compassionate, holistic interpretation.

Medication Safety Advisory

⚠️ Do Not Alter Prescribed Medications Without Medical Guidance

Never discontinue or adjust lipid‑lowering therapy—including statins, fibrates, or niacin—without explicit direction from your prescribing physician. Sudden changes to your cholesterol‑management regimen can destabilise cardiovascular risk parameters. Always consult your doctor before making any modifications to your medication schedule.

Patient Safety – Exclusion Criteria & Emergency Red Flags

  • Exclusion criteria: Active febrile illness or blood transfusion within the preceding two weeks may theoretically affect sample purity, though DNA is highly stable. A 12‑hour fast is recommended if a concurrent lipid panel is ordered.
  • Emergency red flags: Sudden chest pain, unexplained shortness of breath, or neurological symptoms such as unilateral weakness, numbness, or vision loss require immediate emergency medical attention. Tangier disease carriers can harbour accelerated atherosclerosis; do not wait for test results to seek urgent care.

Patient FAQ & Clinical Guidance

1. What is the ABCA1 gene test used for?

The ABCA1 genetic test detects mutations that cause Tangier disease, a rare inherited disorder defined by extremely low HDL cholesterol, enlarged orange tonsils, and premature coronary artery disease. The test confirms the diagnosis, guides lipid management, and enables cascade screening of at‑risk family members.

2. How is the test performed and what preparation is needed?

A 2 mL whole‑blood sample is collected via standard venipuncture. Prior to the blood draw, a certified genetic counsellor will document your clinical history and construct a three‑generation family pedigree. This mandatory session ensures accurate variant interpretation. No fasting is required for the DNA analysis alone, but a 12‑hour fast is recommended if a lipid panel is being drawn concurrently.

3. What do the results mean for my health and family planning?

A positive result confirms a Tangier disease‑associated mutation. Carriers of a single pathogenic variant typically have normal or near‑normal HDL levels and are at lower risk; individuals with two pathogenic variants manifest the full syndrome. The report includes surveillance recommendations such as annual echocardiography and neurological assessment. For family planning, preimplantation genetic diagnosis (PGD) and prenatal testing options can be discussed with your genetic counsellor.

UAE Regulatory & Data Privacy Adherence

This service operates in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is processed under strict confidentiality protocols within a DHA‑licensed molecular diagnostic facility. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our quality management system is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name ABCA1 Gene Tangier Disease Genetic Test (NGS)
Price (AED) 2,800
Turnaround Time 3–4 weeks (21–28 business days)
Sample Type / Matrix 2 mL whole blood in EDTA (peripheral venous draw)
Methodology Used Next‑Generation Sequencing (Illumina platform) with Sanger confirmation
ICD‑10‑CM Code E78.6 (High‑density lipoprotein deficiency)
LOINC Code 94040‑0 (ABCA1 gene full mutation analysis)
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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